I put together these medical challenges. The cases are hypothetical and do not necessarily represent actual or typical presentations of medical diseases. Disclaimer is at the bottom of this page.
Wednesday, September 24, 2008
Give Me Five
Challenge: This finding in conjunction with a protruding tongue, an atrioventricular septal defect, duodenal atresia, and astigmatism suggest what disease?
This is a transverse palmar crease (also known as a Simian crease) seen in Down syndrome. Down syndrome (trisomy 21) also presents with upslanting palpebral fissures, epicanthic folds, Brushfield spots (white spots on the iris), protruding tongue, flat nasal bridge, short neck, short broad hands, MR, cardiac defects, GI abnormalities, short stature, obesity, eye problems, hearing loss, hematologic disorders, endocrine disorders, atlantoaxial instability, skin disorders, and behavioral disorders (and others).
Source: UpToDate, original photo courtesy of Clark, DA.
3 comments:
trisomy 21
Down syndrome!
yep!
-
Give Me Five
This is a transverse palmar crease (also known as a Simian crease) seen in Down syndrome. Down syndrome (trisomy 21) also presents with upslanting palpebral fissures, epicanthic folds, Brushfield spots (white spots on the iris), protruding tongue, flat nasal bridge, short neck, short broad hands, MR, cardiac defects, GI abnormalities, short stature, obesity, eye problems, hearing loss, hematologic disorders, endocrine disorders, atlantoaxial instability, skin disorders, and behavioral disorders (and others).
Source: UpToDate, original photo courtesy of Clark, DA.
Post a Comment